Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly-syndactyly

Zhao-type Brachydactyly is an autosomal dominant brachydactyly-syndactyly-oligodactyly syndrome caused by mutations of the HOXD13. It is characterized by metaphalangeal shortage of digits 2 and 5 while digits 3 and 4 often show syndactyly. Patients may exhibit a short stature and some other skeletal abnormalities.

Systematic

Brachydactyly
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type B1
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type D
Brachydactyly type E1
Brachydactyly type E2
Brachydactyly types B and E combined
Brachydactyly-syndactyly
HOXD13
Fibular aplasia-complex brachydactyly syndrome

References:

1.

Zhao X et. al. (2007) Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

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2.

Ibrahim DM et. al. (2013) Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.

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Update: Sept. 26, 2018